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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Heimler syndrome 1
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Accession:DOID:0080623 term browser browse the term
Definition:A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: Deafness Enamel Hypoplasia Nail Defects;   HMLR1;   Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects;   Heimler syndrome;   PBD1C;   PEROXISOME BIOGENESIS DISORDER 1C;   bilateral sensorineural hearing loss, enamel hypoplasia and nail defects;   peroxisomal biogenesis disorder 1C;   sensorineural hearing loss, enamel hypoplasia, and nail abnormalities
 broad_synonym: Deafness-enamel hypoplasia-nail defects syndrome
 primary_id: MESH:C535994
 alt_id: OMIM:234580
For additional species annotation, visit the Alliance of Genome Resources.


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Heimler syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects
ClinVar Annotator: match by term: Heimler syndrome 1
ClinVar PMID:9398847 PMID:12402331 PMID:16086329 PMID:16088892 PMID:16141001 More... NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Deafness enamel hypoplasia nail defects
ClinVar Annotator: match by term: Heimler syndrome 1
ClinVar
OMIM
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:10384394 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Pathological Conditions, Signs and Symptoms 10235
      Anatomical Pathological Conditions 2003
        Malformed Nails 22
          Heimler syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          mouth disease 783
            tooth disease 299
              teeth hard tissue disease 69
                dental enamel hypoplasia 61
                  amelogenesis imperfecta 53
                    Heimler syndrome 1 3
paths to the root